Family's Challenge With Rare Disease

By Alan Gionet First Coast News

JACKSONVILLE, FL -- Tommy Ries is six-years-old and living with the difficulty of Hurler's Syndrome. Now his family has another challenge; another child with the same, rare genetic disorder. Mother Susan Ries says she was told genetic testing during pregnancy indicated there was no Hurler's in her daughter, but shortly after the birth of her daughter Kaitlyn, she got the bad news, Kaitlyn also has Hurler's.

Hurler's syndrome results when the body does not have a critical enzyme that is used to synthesize sugar molecules. It is so rare; there are only a few dozen cases in the United States. Both parents must have the gene for a child to be born with Hurler's. Children with the disorder rarely live past ten.

Tommy Ries was saved by a bone marrow donation from his older sister Kirstin four years ago. The operation was done at what is now known as the Fairview - University Medical Center in Minneapolis. But only fifteen percent of the marrow remains, having a limited effect. Tommy has a learning disability and heart problems. His life is still at risk. And his body is underdeveloped. His bones leave him the size of a three year old at age six.

The chances for his baby sister Kaitlyn of leading a normal life are better. She is scheduled for a cord blood transplant at the same hospital in Minnesota next month. The cord blood comes from a mother and baby the Ries family will never know. It will give Kaitlyn a ninety percent chance of having normal intelligence. But her life is also at risk. She has only a 60 to 70 percent chance of surviving the transplant.

"Miracles happen. Tommy's a miracle and miracles do happen and you just have to believe that they're going to happen for your children," says mother Susan Ries. But she's the first to admit it's hard and she doesn't sleep well. The family is now looking at spending months in Minnesota during Kaitlyn's recovery.

There will be a benefit for the Ries family this Saturday, October 25th. It's a poker run. People are invited to drive cars, trucks and motorcycles. The "Krusin for Kaitlyn" poker run starts at noon at the new Amsterdam Sky Cafe right in front of The Baseball Grounds of Jacksonville. Registration starts at 10am.

Here's a web site: www.caringbridge.org

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